129 related articles for article (PubMed ID: 35943460)
1. A challenging etiology of myopathy: The late-onset Pompe disease.
Yüce İnel T; Köken Avşar A; Teke Kısa P; Özer E; Sarı İ
Eur J Rheumatol; 2023 Jan; 10(1):26-28. PubMed ID: 35943460
[TBL] [Abstract][Full Text] [Related]
2. Autopsy findings in late-onset Pompe disease: a case report and systematic review of the literature.
Hobson-Webb LD; Proia AD; Thurberg BL; Banugaria S; Prater SN; Kishnani PS
Mol Genet Metab; 2012 Aug; 106(4):462-9. PubMed ID: 22664150
[TBL] [Abstract][Full Text] [Related]
3. Diagnostic tools in late onset Pompe disease (LOPD).
Musumeci O; Toscano A
Ann Transl Med; 2019 Jul; 7(13):286. PubMed ID: 31392198
[TBL] [Abstract][Full Text] [Related]
4. The emerging phenotype of late-onset Pompe disease: A systematic literature review.
Chan J; Desai AK; Kazi ZB; Corey K; Austin S; Hobson-Webb LD; Case LE; Jones HN; Kishnani PS
Mol Genet Metab; 2017 Mar; 120(3):163-172. PubMed ID: 28185884
[TBL] [Abstract][Full Text] [Related]
5. Case Report: Identification of Compound Heterozygous Mutations in a Patient With Late-Onset Glycogen Storage Disease Type II (Pompe Disease).
Zhang H; Chen J; Zhu Y; Ma X; Zhong W
Front Neurol; 2022; 13():839263. PubMed ID: 35386406
[TBL] [Abstract][Full Text] [Related]
6. Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T>G "late-onset" GAA variant.
Rairikar MV; Case LE; Bailey LA; Kazi ZB; Desai AK; Berrier KL; Coats J; Gandy R; Quinones R; Kishnani PS
Mol Genet Metab; 2017 Nov; 122(3):99-107. PubMed ID: 28951071
[TBL] [Abstract][Full Text] [Related]
7. Rare Variants in Autophagy and Non-Autophagy Genes in Late-Onset Pompe Disease: Suggestions of Their Disease-Modifying Role in Two Italian Families.
Napolitano F; Bruno G; Terracciano C; Franzese G; Palomba NP; Scotto di Carlo F; Signoriello E; De Blasiis P; Navarro S; Gialluisi A; Melone MAB; Sampaolo S; Esposito T
Int J Mol Sci; 2021 Mar; 22(7):. PubMed ID: 33807278
[TBL] [Abstract][Full Text] [Related]
8. Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment.
Montagnese F; Barca E; Musumeci O; Mondello S; Migliorato A; Ciranni A; Rodolico C; De Filippi P; Danesino C; Toscano A
J Neurol; 2015; 262(4):968-78. PubMed ID: 25673129
[TBL] [Abstract][Full Text] [Related]
9. Early-onset of symptoms and clinical course of Pompe disease associated with the c.-32-13 T > G variant.
Herbert M; Case LE; Rairikar M; Cope H; Bailey L; Austin SL; Kishnani PS
Mol Genet Metab; 2019 Feb; 126(2):106-116. PubMed ID: 30655185
[TBL] [Abstract][Full Text] [Related]
10. The impact of antibodies in late-onset Pompe disease: a case series and literature review.
Patel TT; Banugaria SG; Case LE; Wenninger S; Schoser B; Kishnani PS
Mol Genet Metab; 2012 Jul; 106(3):301-9. PubMed ID: 22613277
[TBL] [Abstract][Full Text] [Related]
11. Tongue weakness and atrophy differentiates late-onset Pompe disease from other forms of acquired/hereditary myopathy.
Jones HN; Hobson-Webb LD; Kuchibhatla M; Crisp KD; Whyte-Rayson A; Batten MT; Zwelling PJ; Kishnani PS
Mol Genet Metab; 2021 Jul; 133(3):261-268. PubMed ID: 34053870
[TBL] [Abstract][Full Text] [Related]
12. A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan.
Fukuhara Y; Fuji N; Yamazaki N; Hirakiyama A; Kamioka T; Seo JH; Mashima R; Kosuga M; Okuyama T
Mol Genet Metab Rep; 2018 Mar; 14():3-9. PubMed ID: 29124014
[TBL] [Abstract][Full Text] [Related]
13. Potential patient screening for late-onset Pompe disease in suspected sleep apnea: a rationale and study design for a Prospective Multicenter Observational Cohort Study in Japan (PSSAP-J Study).
Yamauchi M; Nakayama H; Shiota S; Ohshima Y; Terada J; Nishijima T; Kosuga M; Kitamura T; Tachibana N; Oguri T; Shirahama R; Aoki Y; Ishigaki K; Sugie K; Yagi T; Muraki H; Fujita Y; Takatani T; Muro S
Sleep Breath; 2021 Jun; 25(2):695-704. PubMed ID: 32808237
[TBL] [Abstract][Full Text] [Related]
14. Late-onset Pompe disease in a 54 year-old sportsman with an episode of syncope: a case report.
Walczak-Galezewska M; Skrypnik D; Szulinska M; Musialik K; Skrypnik K; Bogdanski P
Eur Rev Med Pharmacol Sci; 2017 Aug; 21(16):3665-3667. PubMed ID: 28925476
[TBL] [Abstract][Full Text] [Related]
15. Late-Onset Pompe Disease Presenting with Isolated Tongue Involvement.
Al-Hashel J; Ismail I
Case Rep Neurol; 2022; 14(1):98-103. PubMed ID: 35431876
[TBL] [Abstract][Full Text] [Related]
16. Late-onset Pompe disease (LOPD) in Belgium: clinical characteristics and outcome measures.
Vanherpe P; Fieuws S; D'Hondt A; Bleyenheuft C; Demaerel P; De Bleecker J; Van den Bergh P; Baets J; Remiche G; Verhoeven K; Delstanche S; Toussaint M; Buyse B; Van Damme P; Depuydt CE; Claeys KG
Orphanet J Rare Dis; 2020 Apr; 15(1):83. PubMed ID: 32248831
[TBL] [Abstract][Full Text] [Related]
17. Toward deconstructing the phenotype of late-onset Pompe disease.
Schüller A; Wenninger S; Strigl-Pill N; Schoser B
Am J Med Genet C Semin Med Genet; 2012 Feb; 160C(1):80-8. PubMed ID: 22253010
[TBL] [Abstract][Full Text] [Related]
18. Urodynamic and clinical studies in patients with late-onset Pompe disease and lower urinary tract symptoms.
Kuchenbecker KS; Kirschner-Hermanns R; Kornblum C; Jaekel A; Anding R; Kohler A
Neurourol Urodyn; 2020 Jun; 39(5):1437-1446. PubMed ID: 32343026
[TBL] [Abstract][Full Text] [Related]
19. Comparison of recent pivotal recommendations for the diagnosis and treatment of late-onset Pompe disease using diagnostic nodes-the Pompe disease burden scale.
Hundsberger T; Schoser B; Leupold D; Rösler KM; Putora PM
J Neurol; 2019 Aug; 266(8):2010-2017. PubMed ID: 31104135
[TBL] [Abstract][Full Text] [Related]
20. The new horizons for treatment of Late-Onset Pompe Disease (LOPD).
Guémy C; Laforêt P
Rev Neurol (Paris); 2023; 179(1-2):81-89. PubMed ID: 36609019
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
